Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52224174G>T , CM000665.2:g.52224174G>T | GRCh38 |
| NC_000003.11:g.52258190G>T , CM000665.1:g.52258190G>T | GRCh37 |
| NC_000003.10:g.52233230G>T | NCBI36 |
| NG_033933.1:g.6990C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360658.3:c.142C>A MANE Select | ENSP00000353874.2:p.Leu48Met | |
| ENST00000360658.2:c.142C>A | ENSP00000353874.2:p.Leu48Met | |
| ENST00000478201.1:c.316C>A | ||
| ENST00000494383.1:c.602C>A | ||
| NM_017442.3:c.142C>A | NP_059138.1:p.Leu48Met | |
| NM_017442.4:c.142C>A MANE Select | NP_059138.1:p.Leu48Met |